Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.63961168G= , CM000667.2:g.63961168G= | GRCh38 |
| NC_000005.9:g.63256995G= , CM000667.1:g.63256995G= | GRCh37 |
| NC_000005.8:g.63292751G= | NCBI36 |
| NG_032816.1:g.6125C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323865.5:c.552C= MANE Select | ENSP00000316244.4:p.Pro184= | |
| ENST00000323865.4:c.552C= | ENSP00000316244.3:p.Pro184= | |
| NM_000524.3:c.552C= | NP_000515.2:p.Pro184= | |
| NM_000524.4:c.552C= MANE Select | NP_000515.2:p.Pro184= |